Ms Bronwyn Grinton
Research Assistant
Department of Medicine
51 Scholarly works
0 Projects
HIGHLIGHTS
2026
Journal article
SLC7A6OS Founder Mutation: A Rare Cause of Progressive Myoclonus Epilepsy Dated to 1100 Years Ago.
DOI: 10.1002/mds.705162026
Journal article
Early sodium channel blocker initiation is associated with better outcomes in KCNQ2 disorders.
DOI: 10.1093/brain/awag2772025
Journal article
Identifying individuals with rare disease variants by inferring shared ancestral haplotypes from SNP array data
DOI: 10.1093/nargab/lqaf0332024
Journal article
Investigating the effect of polygenic background on epilepsy phenotype in ‘monogenic’ families
DOI: 10.1016/j.ebiom.2024.1054042023
Journal article
Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum and Genetic Evidence for a Polygenic Architecture
DOI: 10.1002/ana.267652023
Journal article
Recognition and epileptology of protracted CLN3 disease
DOI: 10.1111/epi.176162023
Journal article
Genes4Epilepsy: An epilepsy gene resource
DOI: 10.1111/epi.17547
RECENT SCHOLARLY WORKS
2022
Journal article
A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure
DOI: 10.1016/j.ajhg.2022.10.0042022
Conference Proceedings
A Hidden Markov Model to Identify Inherited Disease-Causing Variants Using Shared Genetic Markers
2021
Journal article
Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus
DOI: 10.1212/WNL.0000000000011855